Mutagenetix > Incidental Mutation

Incidental Mutation 'R6028:Arhgap30'

480147

Institutional Source

Beutler Lab

Gene Symbol

Arhgap30

Ensembl Gene

ENSMUSG00000048865

Gene Name

Rho GTPase activating protein 30

Synonyms

6030405P05Rik

MMRRC Submission

044200-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6028 (G1)

Quality Score

192.009

Status

Validated

Chromosome

Chromosomal Location

171216528-171237808 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 171235888 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 754 (D754G)

Ref Sequence

ENSEMBL: ENSMUSP00000059389 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001284] [ENSMUST00000056449] [ENSMUST00000159207] [ENSMUST00000161241] [ENSMUST00000167546] [ENSMUST00000160486]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000001284

Predicted Effect

probably benign
Transcript: ENSMUST00000056449
AA Change: D754G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000059389
Gene: ENSMUSG00000048865
AA Change: D754G

Domain	Start	End	E-Value	Type
low complexity region	6	14	N/A	INTRINSIC
RhoGAP	31	212	1.4e-61	SMART
Blast:RhoGAP	225	285	2e-24	BLAST
low complexity region	348	366	N/A	INTRINSIC
low complexity region	367	378	N/A	INTRINSIC
low complexity region	452	463	N/A	INTRINSIC
low complexity region	498	510	N/A	INTRINSIC
low complexity region	514	534	N/A	INTRINSIC
low complexity region	667	690	N/A	INTRINSIC
low complexity region	736	752	N/A	INTRINSIC
low complexity region	924	940	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131607

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135312

Predicted Effect

probably benign
Transcript: ENSMUST00000159207

SMART Domains

Protein: ENSMUSP00000124000
Gene: ENSMUSG00000026641

Domain	Start	End	E-Value	Type
low complexity region	121	145	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159466

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160335

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161297

Predicted Effect

probably benign
Transcript: ENSMUST00000161241

SMART Domains

Protein: ENSMUSP00000125729
Gene: ENSMUSG00000026641

Domain	Start	End	E-Value	Type
low complexity region	121	145	N/A	INTRINSIC
HLH	205	260	5.01e-15	SMART
low complexity region	265	281	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000167546

SMART Domains

Protein: ENSMUSP00000128913
Gene: ENSMUSG00000026641

Domain	Start	End	E-Value	Type
low complexity region	121	145	N/A	INTRINSIC
HLH	205	260	5.01e-15	SMART
low complexity region	265	281	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000160486

SMART Domains

Protein: ENSMUSP00000125363
Gene: ENSMUSG00000026641

Domain	Start	End	E-Value	Type
low complexity region	121	145	N/A	INTRINSIC
HLH	205	260	5.01e-15	SMART
low complexity region	265	281	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.8%

Validation Efficiency

100% (72/72)

Allele List at MGI

All alleles(4) : Targeted(2) Gene trapped(2)

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810062G17Rik	T	A	3: 36,533,718 (GRCm39)		probably null	Het
Acat1	A	T	9: 53,503,366 (GRCm39)	Y158N	probably damaging	Het
Adamtsl1	C	A	4: 86,260,561 (GRCm39)	A924E	probably damaging	Het
Adck1	A	T	12: 88,368,902 (GRCm39)	M127L	probably benign	Het
Afg3l2	G	T	18: 67,554,329 (GRCm39)	L458M	probably damaging	Het
Alad	G	T	4: 62,428,359 (GRCm39)	T305K	probably benign	Het
Ankrd33	T	C	15: 101,016,953 (GRCm39)	F65S	probably damaging	Het
Ap3d1	T	C	10: 80,558,761 (GRCm39)	N281S	possibly damaging	Het
Asah2	T	C	19: 31,993,914 (GRCm39)	D438G	probably damaging	Het
Cachd1	C	A	4: 100,840,753 (GRCm39)	N905K	probably damaging	Het
Cdh23	G	T	10: 60,370,314 (GRCm39)	D160E	probably damaging	Het
Cntln	T	A	4: 84,889,410 (GRCm39)	S298T	probably benign	Het
Cplx3	A	G	9: 57,515,546 (GRCm39)	I443T	probably damaging	Het
Dnah5	T	A	15: 28,387,979 (GRCm39)	M3146K	probably damaging	Het
Doc2b	C	A	11: 75,663,412 (GRCm39)	A347S	probably benign	Het
Efcab3	T	C	11: 104,660,481 (GRCm39)		probably null	Het
Eif1ad16	A	T	12: 87,985,131 (GRCm39)	D137E	possibly damaging	Het
Eps8l2	T	C	7: 140,937,746 (GRCm39)	F422S	possibly damaging	Het
Esm1	A	G	13: 113,353,201 (GRCm39)	N161S	possibly damaging	Het
Fbxw10	C	T	11: 62,764,345 (GRCm39)	Q671*	probably null	Het
Fnbp4	C	A	2: 90,581,478 (GRCm39)	T177K	probably benign	Het
Gpr137c	C	A	14: 45,514,938 (GRCm39)	Q266K	probably damaging	Het
Hax1	GTCATCATCATCATCATC	GTCATCATCATCATCATCATC	3: 89,905,247 (GRCm39)		probably benign	Het
Hk1	C	A	10: 62,188,837 (GRCm39)	K25N	probably null	Het
Klhl29	G	T	12: 5,140,995 (GRCm39)	Y616*	probably null	Het
Lmnb1	T	G	18: 56,876,348 (GRCm39)	Y485*	probably null	Het
Lrrc63	A	G	14: 75,323,614 (GRCm39)	S537P	possibly damaging	Het
Ltbp2	T	A	12: 84,831,626 (GRCm39)	N1686I	probably damaging	Het
Map9	T	A	3: 82,287,555 (GRCm39)		probably null	Het
Marco	T	A	1: 120,418,671 (GRCm39)	Q194L	probably damaging	Het
Mc3r	A	T	2: 172,091,129 (GRCm39)	D117V	probably damaging	Het
Meltf	T	A	16: 31,706,294 (GRCm39)	D259E	possibly damaging	Het
Mical1	A	T	10: 41,362,873 (GRCm39)	M973L	probably benign	Het
Mmp21	T	C	7: 133,280,443 (GRCm39)	T176A	probably benign	Het
Mterf1b	T	A	5: 4,247,666 (GRCm39)		probably null	Het
Muc16	G	A	9: 18,568,472 (GRCm39)	S1349F	unknown	Het
Nacc2	A	G	2: 25,951,590 (GRCm39)	V415A	probably damaging	Het
Ncl	A	G	1: 86,283,855 (GRCm39)	V322A	probably benign	Het
Neb	G	A	2: 52,083,243 (GRCm39)	T1639I	probably damaging	Het
Nfia	A	G	4: 97,999,488 (GRCm39)	H485R	possibly damaging	Het
Nlrp9a	C	T	7: 26,257,762 (GRCm39)	T460I	probably benign	Het
Or8g24	T	A	9: 38,989,379 (GRCm39)	I221F	probably damaging	Het
Or8k32	T	A	2: 86,369,113 (GRCm39)	I49F	possibly damaging	Het
Patl2	T	A	2: 121,956,618 (GRCm39)	Q158L	possibly damaging	Het
Pja2	T	C	17: 64,616,085 (GRCm39)	D270G	probably benign	Het
Pkd1l1	T	C	11: 8,786,267 (GRCm39)	H1929R	probably benign	Het
Plekhh3	A	T	11: 101,057,396 (GRCm39)	M287K	probably damaging	Het
Polb	G	T	8: 23,130,011 (GRCm39)	S187*	probably null	Het
Popdc3	A	G	10: 45,194,015 (GRCm39)	D272G	probably benign	Het
Prkar2b	A	T	12: 32,043,757 (GRCm39)	D121E	possibly damaging	Het
Psmd3	T	A	11: 98,576,491 (GRCm39)	L131Q	probably damaging	Het
Ptcd3	A	T	6: 71,875,392 (GRCm39)	C197S	probably damaging	Het
Ptprf	A	T	4: 118,070,826 (GRCm39)	V1391D	probably benign	Het
Purb	A	G	11: 6,425,150 (GRCm39)	F246S	probably damaging	Het
Rgs8	C	A	1: 153,566,734 (GRCm39)	T95N	probably damaging	Het
Slc2a13	T	C	15: 91,160,319 (GRCm39)	N545S	probably damaging	Het
Smpd2	A	G	10: 41,365,344 (GRCm39)	W51R	probably damaging	Het
Srgap1	T	C	10: 121,664,635 (GRCm39)	Q490R	probably null	Het
Strbp	G	A	2: 37,515,267 (GRCm39)	T253I	probably damaging	Het
Sult1d1	A	T	5: 87,707,685 (GRCm39)	M145K	probably damaging	Het
Taf5l	A	C	8: 124,729,714 (GRCm39)		probably null	Het
Tas2r131	T	G	6: 132,934,639 (GRCm39)	I57L	probably benign	Het
Tcf25	A	G	8: 124,108,176 (GRCm39)	N77S	possibly damaging	Het
Tmem253	A	G	14: 52,255,268 (GRCm39)	T57A	possibly damaging	Het
Tspan17	A	G	13: 54,941,111 (GRCm39)	N130S	probably damaging	Het
Utrn	T	C	10: 12,530,460 (GRCm39)	S2118G	probably benign	Het
Vmn2r3	T	A	3: 64,182,698 (GRCm39)	T334S	probably benign	Het
Wnk2	G	T	13: 49,229,821 (GRCm39)	A901E	probably damaging	Het
Zc3hav1	T	C	6: 38,284,275 (GRCm39)	T947A	probably benign	Het
Zfhx3	C	T	8: 109,520,135 (GRCm39)	P419L	probably damaging	Het
Zfp292	A	G	4: 34,819,549 (GRCm39)	S258P	probably damaging	Het
Zfp964	A	G	8: 70,116,563 (GRCm39)	T388A	unknown	Het

Other mutations in Arhgap30

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01638:Arhgap30	APN	1	171,225,138 (GRCm39)	missense	probably damaging	1.00
IGL02016:Arhgap30	APN	1	171,235,315 (GRCm39)	missense	probably damaging	1.00
IGL02552:Arhgap30	APN	1	171,235,324 (GRCm39)	missense	probably damaging	1.00
IGL03343:Arhgap30	APN	1	171,236,662 (GRCm39)	missense	probably damaging	1.00
consonance	UTSW	1	171,231,707 (GRCm39)	critical splice donor site	probably null
deliverance	UTSW	1	171,225,086 (GRCm39)	nonsense	probably null
redemption	UTSW	1	171,229,822 (GRCm39)	missense	probably damaging	1.00
tercero	UTSW	1	171,235,909 (GRCm39)	missense	probably benign
FR4304:Arhgap30	UTSW	1	171,232,736 (GRCm39)	small insertion	probably benign
P0017:Arhgap30	UTSW	1	171,236,272 (GRCm39)	missense	probably benign	0.02
R0045:Arhgap30	UTSW	1	171,235,998 (GRCm39)	missense	probably benign
R0045:Arhgap30	UTSW	1	171,235,998 (GRCm39)	missense	probably benign
R0115:Arhgap30	UTSW	1	171,235,516 (GRCm39)	missense	possibly damaging	0.92
R0320:Arhgap30	UTSW	1	171,231,372 (GRCm39)	missense	possibly damaging	0.81
R0399:Arhgap30	UTSW	1	171,232,384 (GRCm39)	missense	probably damaging	0.97
R0945:Arhgap30	UTSW	1	171,230,854 (GRCm39)	missense	probably damaging	1.00
R1484:Arhgap30	UTSW	1	171,230,839 (GRCm39)	missense	probably damaging	1.00
R1595:Arhgap30	UTSW	1	171,235,909 (GRCm39)	missense	probably benign
R2173:Arhgap30	UTSW	1	171,235,335 (GRCm39)	missense	probably damaging	1.00
R2281:Arhgap30	UTSW	1	171,216,896 (GRCm39)	missense	probably damaging	1.00
R2864:Arhgap30	UTSW	1	171,235,774 (GRCm39)	missense	probably damaging	1.00
R4066:Arhgap30	UTSW	1	171,235,891 (GRCm39)	missense	probably benign
R4888:Arhgap30	UTSW	1	171,236,880 (GRCm39)	missense	probably benign
R4937:Arhgap30	UTSW	1	171,230,897 (GRCm39)	missense	probably benign	0.03
R4944:Arhgap30	UTSW	1	171,229,822 (GRCm39)	missense	probably damaging	1.00
R5170:Arhgap30	UTSW	1	171,235,618 (GRCm39)	missense	probably benign	0.00
R5218:Arhgap30	UTSW	1	171,236,328 (GRCm39)	missense	probably benign
R5385:Arhgap30	UTSW	1	171,235,848 (GRCm39)	missense	probably benign
R5541:Arhgap30	UTSW	1	171,231,707 (GRCm39)	critical splice donor site	probably null
R6747:Arhgap30	UTSW	1	171,235,297 (GRCm39)	missense	probably damaging	1.00
R6748:Arhgap30	UTSW	1	171,232,378 (GRCm39)	missense	possibly damaging	0.50
R6869:Arhgap30	UTSW	1	171,236,623 (GRCm39)	missense	probably damaging	1.00
R7223:Arhgap30	UTSW	1	171,235,139 (GRCm39)	missense	probably damaging	1.00
R8113:Arhgap30	UTSW	1	171,225,086 (GRCm39)	nonsense	probably null
R8543:Arhgap30	UTSW	1	171,232,530 (GRCm39)	missense	probably damaging	1.00
R8545:Arhgap30	UTSW	1	171,234,998 (GRCm39)	missense	probably damaging	1.00
R8682:Arhgap30	UTSW	1	171,234,970 (GRCm39)	missense	probably benign	0.00
R8693:Arhgap30	UTSW	1	171,225,094 (GRCm39)	missense	probably damaging	1.00
R9026:Arhgap30	UTSW	1	171,228,258 (GRCm39)	missense	probably damaging	1.00
R9245:Arhgap30	UTSW	1	171,235,957 (GRCm39)	missense	possibly damaging	0.90
R9515:Arhgap30	UTSW	1	171,236,002 (GRCm39)	missense	probably benign	0.38
R9524:Arhgap30	UTSW	1	171,225,114 (GRCm39)	missense	probably damaging	0.99
R9703:Arhgap30	UTSW	1	171,235,339 (GRCm39)	missense	probably damaging	1.00
X0020:Arhgap30	UTSW	1	171,232,653 (GRCm39)	missense	possibly damaging	0.53
Z1177:Arhgap30	UTSW	1	171,235,476 (GRCm39)	missense	probably benign	0.01
Z1189:Arhgap30	UTSW	1	171,235,938 (GRCm39)	missense	possibly damaging	0.89

Predicted Primers

PCR Primer
(F):5'- GGCAACTCCAGAGACTGAGATG -3'
(R):5'- TGTTCCTTGCTGAAAACCCC -3'

Sequencing Primer
(F):5'- CTCCAGAGACTGAGATGGAGGC -3'
(R):5'- GGACTTCCACTGTCTTCACTGTG -3'

Posted On

2017-06-26